16p12.2 Microdeletion

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Yang, C. 16p12.2 Microdeletion. Encyclopedia. Available online: https://encyclopedia.pub/entry/3919 (accessed on 24 September 2026).

Yang C. 16p12.2 Microdeletion. Encyclopedia. Available at: https://encyclopedia.pub/entry/3919. Accessed September 24, 2026.

Yang, Catherine. "16p12.2 Microdeletion" Encyclopedia, https://encyclopedia.pub/entry/3919 (accessed September 24, 2026).

Yang, C. (2020, December 23). 16p12.2 Microdeletion. In Encyclopedia. https://encyclopedia.pub/entry/3919

Yang, Catherine. "16p12.2 Microdeletion." Encyclopedia. Web. 23 December, 2020.

16p12.2 Microdeletion

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/16p122-microdeletion

16p12.2 microdeletion is a chromosomal change in which a small amount of genetic material on chromosome 16 is deleted. The deletion occurs on the short (p) arm of the chromosome at a location designated p12.2. Common characteristics that have been described in people with a 16p12.2 microdeletion include developmental delay, delayed speech, intellectual disability that ranges from mild to profound, weak muscle tone (hypotonia), slow growth resulting in short stature, an usually small head (microcephaly), malformations of the heart, recurrent seizures (epilepsy), and psychiatric and behavioral problems.

genetic conditions

References

Antonacci F, Kidd JM, Marques-Bonet T, Teague B, Ventura M, Girirajan S, AlkanC, Campbell CD, Vives L, Malig M, Rosenfeld JA, Ballif BC, Shaffer LG, Graves TA,Wilson RK, Schwartz DC, Eichler EE. A large and complex structural polymorphismat 16p12.1 underlies microdeletion disease risk. Nat Genet. 2010Sep;42(9):745-50. doi: 10.1038/ng.643.
Brisset S, Capri Y, Briand-Suleau A, Tosca L, Gras D, Fauret-Amsellem AL,Pineau D, Saada J, Ortonne V, Verloes A, Goossens M, Tachdjian G, Métay C.Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestations. Eur J Med Genet. 2015 Sep;58(9):497-501. doi:10.1016/j.ejmg.2015.07.001.
Coe BP, Girirajan S, Eichler EE. The genetic variability and commonality ofneurodevelopmental disease. Am J Med Genet C Semin Med Genet. 2012 May15;160C(2):118-29. doi: 10.1002/ajmg.c.31327.
Girirajan S, Pizzo L, Moeschler J, Rosenfeld J. 16p12.2 Recurrent Deletion.2015 Feb 26 [updated 2018 Sep 13]. In: Adam MP, Ardinger HH, Pagon RA, WallaceSE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle(WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK274565/
Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ,Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R,Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, OzmoreJR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J,Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA,Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J,King MC, Shaffer LG, Eichler EE. A recurrent 16p12.1 microdeletion supports atwo-hit model for severe developmental delay. Nat Genet. 2010 Mar;42(3):203-9.doi: 10.1038/ng.534.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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